Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy) |
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Authors: | Tylki-Szymańska Anna Czartoryska Barbara Groener Johanna E M Ługowska Agnieszka |
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Affiliation: | Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland. atylki@czd.waw.pl |
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Abstract: | Mucolipidosis III (MLIII) is caused by a deficiency of UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine 1-phosphotransferase (phosphotransferase) activity, an enzyme responsible for the formation of the recognition marker on most lysosomal enzymes. The consequences of this defect are impairment of many lysosomal catabolic processes. A deficiency of phosphotransferase activity causes two phenotypically different diseases: mucolipidosis II and a rare form, mucolipidosis III (pseudo-Hurler polydystrophy). The purpose of this article is to report three patients with ML III, presenting quite different clinical courses: Patient 1 is a 13-year-old girl in whom the only symptoms of ML III were joint stiffness of the hands. Patients 2 and 3 are sibs: a 5-year-old boy with a severe form of ML III and his 2-year-old sister, who is less affected than her brother at the same age. A comparison of biochemical results and the clinical picture of our patients with cases in the literature is presented. |
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